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| Title : GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders - Chompoopong_2023_Genes.(Basel)_14_ |
| Author(s) : Chompoopong P , Milone M |
| Ref : Genes (Basel) , 14 : , 2023 |
| Abstract : Chompoopong_2023_Genes.(Basel)_14_ |
| ESTHER : Chompoopong_2023_Genes.(Basel)_14_ |
| PubMedSearch : Chompoopong_2023_Genes.(Basel)_14_ |
| PubMedID: 36833299 |
| Title : The spectrum of mutations causing end-plate acetylcholinesterase deficiency - Ohno_2000_Ann.Neurol_47_162 |
| Author(s) : Ohno K , Engel AG , Brengman JM , Shen XM , Heidenreich F , Vincent A , Milone M , Tan E , Demirci M , Walsh P , Nakano S , Akiguchi I |
| Ref : Annals of Neurology , 47 :162 , 2000 |
| Abstract : Ohno_2000_Ann.Neurol_47_162 |
| ESTHER : Ohno_2000_Ann.Neurol_47_162 |
| PubMedSearch : Ohno_2000_Ann.Neurol_47_162 |
| PubMedID: 10665486 |
| Title : Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome - Wang_2000_J.Gen.Physiol_116_449 |
| Author(s) : Wang HL , Ohno K , Milone M , Brengman JM , Evoli A , Batocchi AP , Middleton LT , Christodoulou K , Engel AG , Sine SM |
| Ref : Journal of General Physiology , 116 :449 , 2000 |
| Abstract : Wang_2000_J.Gen.Physiol_116_449 |
| ESTHER : Wang_2000_J.Gen.Physiol_116_449 |
| PubMedSearch : Wang_2000_J.Gen.Physiol_116_449 |
| PubMedID: 10962020 |
| Title : Mutation causing congenital myasthenia reveals acetylcholine receptor beta\/delta subunit interaction essential for assembly - Quiram_1999_J.Clin.Invest_104_1403 |
| Author(s) : Quiram PA , Ohno K , Milone M , Patterson MC , Pruitt NJ , Brengman JM , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 104 :1403 , 1999 |
| Abstract : Quiram_1999_J.Clin.Invest_104_1403 |
| ESTHER : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedSearch : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedID: 10562302 |
| Title : Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating - Wang_1999_Nat.Neurosci_2_226 |
| Author(s) : Wang HL , Milone M , Ohno K , Shen XM , Tsujino A , Batocchi AP , Tonali P , Brengman J , Engel AG , Sine SM |
| Ref : Nat Neurosci , 2 :226 , 1999 |
| Abstract : Wang_1999_Nat.Neurosci_2_226 |
| ESTHER : Wang_1999_Nat.Neurosci_2_226 |
| PubMedSearch : Wang_1999_Nat.Neurosci_2_226 |
| PubMedID: 10195214 |
| Title : Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit - Milone_1998_Neuron_20_575 |
| Author(s) : Milone M , Wang HL , Ohno K , Prince R , Fukudome T , Shen XM , Brengman JM , Griggs RC , Sine SM , Engel AG |
| Ref : Neuron , 20 :575 , 1998 |
| Abstract : Milone_1998_Neuron_20_575 |
| ESTHER : Milone_1998_Neuron_20_575 |
| PubMedSearch : Milone_1998_Neuron_20_575 |
| PubMedID: 9539130 |
| Title : Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit - Milone_1997_J.Neurosci_17_5651 |
| Author(s) : Milone M , Wang HL , Ohno K , Fukudome T , Pruitt JN , Bren N , Sine SM , Engel AG |
| Ref : Journal of Neuroscience , 17 :5651 , 1997 |
| Abstract : Milone_1997_J.Neurosci_17_5651 |
| ESTHER : Milone_1997_J.Neurosci_17_5651 |
| PubMedSearch : Milone_1997_J.Neurosci_17_5651 |
| PubMedID: 9221765 |
| Title : Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Ohno_1997_Hum.Mol.Genet_6_753 |
| Author(s) : Ohno K , Quiram PA , Milone M , Wang HL , Harper MC , Pruitt JN, 2nd , Brengman JM , Pao L , Fischbeck KH , Crawford TO , Sine SM , Engel AG |
| Ref : Hum Mol Genet , 6 :753 , 1997 |
| Abstract : Ohno_1997_Hum.Mol.Genet_6_753 |
| ESTHER : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedID: 9158150 |
| Title : New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome - Engel_1996_Hum.Mol.Genet_5_1217 |
| Author(s) : Engel AG , Ohno K , Milone M , Wang HL , Nakano S , Bouzat C , Pruitt JN, 2nd , Hutchinson DO , Brengman JM , Bren N , Sieb JP , Sine SM |
| Ref : Hum Mol Genet , 5 :1217 , 1996 |
| Abstract : Engel_1996_Hum.Mol.Genet_5_1217 |
| ESTHER : Engel_1996_Hum.Mol.Genet_5_1217 |
| PubMedSearch : Engel_1996_Hum.Mol.Genet_5_1217 |
| PubMedID: 8872460 |
| Title : Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit - Ohno_1996_Neuron_17_157 |
| Author(s) : Ohno K , Wang HL , Milone M , Bren N , Brengman JM , Nakano S , Quiram P , Pruitt JN , Sine SM , Engel AG |
| Ref : Neuron , 17 :157 , 1996 |
| Abstract : Ohno_1996_Neuron_17_157 |
| ESTHER : Ohno_1996_Neuron_17_157 |
| PubMedSearch : Ohno_1996_Neuron_17_157 |
| PubMedID: 8755487 |
| Title : Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission - Sieb_1996_Brain.Res_712_179 |
| Author(s) : Sieb JP , Milone M , Engel AG |
| Ref : Brain Research , 712 :179 , 1996 |
| Abstract : Sieb_1996_Brain.Res_712_179 |
| ESTHER : Sieb_1996_Brain.Res_712_179 |
| PubMedSearch : Sieb_1996_Brain.Res_712_179 |
| PubMedID: 8814892 |
| Title : Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit - Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| Author(s) : Ohno K , Hutchinson DO , Milone M , Brengman JM , Bouzat C , Sine SM , Engel AG |
| Ref : Proc Natl Acad Sci U S A , 92 :758 , 1995 |
| Abstract : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| ESTHER : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedSearch : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedID: 7531341 |
| Title : Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity - Sine_1995_Neuron_15_229 |
| Author(s) : Sine SM , Ohno K , Bouzat C , Auerbach A , Milone M , Pruitt JN , Engel AG |
| Ref : Neuron , 15 :229 , 1995 |
| Abstract : Sine_1995_Neuron_15_229 |
| ESTHER : Sine_1995_Neuron_15_229 |
| PubMedSearch : Sine_1995_Neuron_15_229 |
| PubMedID: 7619526 |